A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517272



Internal ID15097879
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:63814307..64020132hg38UCSC Ensembl
Innerchr17:61891667..62097492hg19UCSC Ensembl
Innerchr17:59245399..59451224hg18UCSC Ensembl
Innerchr17:59245399..59451224hg17UCSC Ensembl
Cytoband17q23.3
Allele length
AssemblyAllele length
hg38205826
hg19205826
hg18205826
hg17205826
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv690286, nssv654177, nssv659744, nssv667944, nssv686445, nssv660158, nssv701764, nssv688483, nssv699804, nssv657138, nssv659897, nssv659422
Samples
Known GenesC17orf72, CD79B, CSH1, CSH2, CSHL1, DDX42, FTSJ3, GH1, GH2, ICAM2, PSMC5, SCN4A, SMARCD2, TCAM1P
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517272
Frequency
Sample Size2026
Observed Gain1
Observed Loss11
Observed Complex0
Frequencyn/a


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